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NM_014321.4(ORC6):c.602_605del (p.Lys201fs) AND Meier-Gorlin syndrome 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 26, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000239709.3

Allele description [Variation Report for NM_014321.4(ORC6):c.602_605del (p.Lys201fs)]

NM_014321.4(ORC6):c.602_605del (p.Lys201fs)

Gene:
ORC6:origin recognition complex subunit 6 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16q11.2
Genomic location:
Preferred name:
NM_014321.4(ORC6):c.602_605del (p.Lys201fs)
HGVS:
  • NC_000016.10:g.46696052AGAA[1]
  • NG_028241.1:g.11407AGAA[1]
  • NM_014321.4:c.602_605delMANE SELECT
  • NP_055136.1:p.Lys201fs
  • NC_000016.9:g.46729964AGAA[1]
  • NM_014321.3:c.602_605del
  • NR_037620.2:n.704AGAA[1]
Protein change:
K201fs
Links:
OMIM: 607213.0005; dbSNP: rs879255692
NCBI 1000 Genomes Browser:
rs879255692
Molecular consequence:
  • NM_014321.4:c.602_605del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_037620.2:n.704AGAA[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Meier-Gorlin syndrome 3 (MGORS3)
Identifiers:
MONDO: MONDO:0013430; MedGen: C3151113; Orphanet: 2554; OMIM: 613803

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000298178OMIM
no assertion criteria provided
Pathogenic
(Aug 26, 2019) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.

Shalev SA, Khayat M, Etty DS, Elpeleg O.

Am J Med Genet A. 2015 Mar;167A(3):607-11. doi: 10.1002/ajmg.a.36906.

PubMed [citation]
PMID:
25691413

A syndrome characterized by intra-uterine lower limb dislocation, gracile bones, clubfeet, and other skeletal features.

Shalev SA.

Am J Med Genet A. 2007 Feb 15;143(4):395-8. No abstract available.

PubMed [citation]
PMID:
17256795

Details of each submission

From OMIM, SCV000298178.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 2 fetuses from an Ashkenazi Jewish family with Meier-Gorlin syndrome-3 (MGORS3; 613803), originally described by Shalev (2007), Shalev et al. (2015) identified homozygosity for a 4-bp deletion (chr16.46,729,968delAGAA, GRCh37) (c.602_605delAGAA) in the ORC6 gene, causing a frameshift predicted to result in a premature termination codon (Lys202ArgfsTer1). The deletion was present in heterozygosity in the unaffected first-cousin parents and 2 healthy sisters, and was not found in the ExAC database.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022